Title |
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
|
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Published in |
Orphanet Journal of Rare Diseases, October 2012
|
DOI | 10.1186/1750-1172-7-82 |
Pubmed ID | |
Authors |
Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura González-Mera, Francina Munell, Manuel Roig-Quilis, Maria Rabasa, Aurelio Hernández-Lain, Jorge Díaz-Manera, Eduard Gallardo, Jordi Pascual, Edgard Verdura, Jaume Colomer, Montserrat Baiget, Montse Olivé, Pia Gallano |
Abstract |
Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to skewed X-chromosome inactivation (XCI) favouring predominant expression of the DMD mutant allele. However the prognostic use of XCI analysis is controversial. We aimed to evaluate the correlation between X-chromosome inactivation and development of clinical symptoms in a series of symptomatic female carriers of dystrophinopathy. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Mexico | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Germany | 1 | 2% |
Unknown | 56 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 17 | 30% |
Researcher | 10 | 18% |
Student > Bachelor | 7 | 12% |
Student > Master | 5 | 9% |
Other | 4 | 7% |
Other | 11 | 19% |
Unknown | 3 | 5% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 19 | 33% |
Biochemistry, Genetics and Molecular Biology | 11 | 19% |
Agricultural and Biological Sciences | 10 | 18% |
Neuroscience | 3 | 5% |
Nursing and Health Professions | 2 | 4% |
Other | 8 | 14% |
Unknown | 4 | 7% |